Canonical Allele Identifier: CA1768019995

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061434T= , CM000670.2:g.18061434T=	GRCh38
NC_000008.10:g.17918943T= , CM000670.1:g.17918943T=	GRCh37
NC_000008.9:g.17963223T=	NCBI36
NG_008985.1:g.28565A=
NG_008985.2:g.28565A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.776A=	ENSP00000371152.4:p.Lys259=
ENST00000517409.2:n.696A=
ENST00000518746.2:n.2414A=
ENST00000519545.6:n.745A=
ENST00000520781.6:c.653A=	ENSP00000427751.1:p.Lys218=
ENST00000521542.2:n.36A=
ENST00000635756.1:c.141A=
ENST00000635944.1:c.*564A=	ENSP00000490195.1:n.*564A=
ENST00000635998.1:c.728A=	ENSP00000490506.1:p.Lys243=
ENST00000636009.1:c.585A=	ENSP00000489988.1:n.585A=
ENST00000636033.1:c.*564A=	ENSP00000489617.1:n.*564A=
ENST00000636050.1:c.*571A=	ENSP00000490562.1:n.*571A=
ENST00000636128.1:c.407A=	ENSP00000489789.1:p.Lys136=
ENST00000636160.1:c.*620A=	ENSP00000489651.1:n.*620A=
ENST00000636171.1:c.671A=	ENSP00000489761.1:p.Lys224=
ENST00000636455.1:c.776A=	ENSP00000490502.1:p.Lys259=
ENST00000636494.1:c.*508A=	ENSP00000490388.1:n.*508A=
ENST00000636563.1:n.390A=
ENST00000636577.1:c.668A=	ENSP00000490027.1:p.Lys223=
ENST00000636691.1:c.533A=	ENSP00000490725.1:p.Lys178=
ENST00000636701.1:c.*379A=	ENSP00000489800.1:n.*379A=
ENST00000636815.1:c.645A=
ENST00000636920.1:c.*564A=	ENSP00000490437.1:n.*564A=
ENST00000636997.1:c.641A=	ENSP00000490093.1:p.Lys214=
ENST00000637013.1:c.*1096A=	ENSP00000490596.1:n.*1096A=
ENST00000637014.1:n.1135A=
ENST00000637095.1:c.*508A=	ENSP00000490415.1:n.*508A=
ENST00000637244.1:c.*1246A=	ENSP00000490188.1:n.*1246A=
ENST00000637343.1:n.2165A=
ENST00000637429.1:c.*940A=	ENSP00000490522.1:n.*940A=
ENST00000637484.1:c.*690A=	ENSP00000490837.1:n.*690A=
ENST00000637528.1:c.665A=	ENSP00000490801.1:p.Lys222=
ENST00000637609.1:n.3449A=
ENST00000637636.1:c.722A=	ENSP00000490112.1:p.Lys241=
ENST00000637790.2:c.728A= MANE Select	ENSP00000490272.1:p.Lys243=
ENST00000637857.1:n.1094A=
ENST00000637922.1:c.533A=	ENSP00000490071.1:p.Lys178=
ENST00000637991.1:c.701A=	ENSP00000489901.1:p.Lys234=
ENST00000638028.1:n.945A=
ENST00000638069.1:n.1549A=
ENST00000262097.10:c.728A=	ENSP00000262097.6:p.Lys243=
ENST00000314146.10:c.710A=	ENSP00000326970.10:p.Lys237=
ENST00000381733.8:c.776A=	ENSP00000371152.4:p.Lys259=
ENST00000518746.1:n.545A=
ENST00000519468.5:n.557A=
ENST00000520781.5:c.653A=	ENSP00000427751.1:p.Lys218=
ENST00000521542.1:n.441A=
NM_001127505.1:c.710A=	NP_001120977.1:p.Lys237=
NM_001127505.2:c.710A=	NP_001120977.1:p.Lys237=
NM_004315.4:c.776A=	NP_004306.3:p.Lys259=
NM_004315.5:c.776A=	NP_004306.3:p.Lys259=
NM_177924.3:c.728A=	NP_808592.2:p.Lys243=
NM_177924.4:c.728A=	NP_808592.2:p.Lys243=
XM_005273504.2:c.662A=	XP_005273561.1:p.Lys221=
NM_001363743.1:c.533A=	NP_001350672.1:p.Lys178=
XM_005273504.3:c.662A=	XP_005273561.1:p.Lys221=
NM_177924.5:c.728A= MANE Select	NP_808592.2:p.Lys243=
NM_001127505.3:c.710A=	NP_001120977.1:p.Lys237=
NM_001363743.2:c.533A=	NP_001350672.1:p.Lys178=
NM_004315.6:c.776A=	NP_004306.3:p.Lys259=